rs121912475

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs121912475(G;T)

Make rs121912475(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

52519160

Gene

KRT5

is a	snp
is	mentioned by
dbSNP	rs121912475
dbSNP (classic)	rs121912475
ClinGen	rs121912475
ebi	rs121912475
HLI	rs121912475
Exac	rs121912475
Gnomad	rs121912475
Varsome	rs121912475
LitVar	rs121912475
Map	rs121912475
PheGenI	rs121912475
Biobank	rs121912475
1000 genomes	rs121912475
hgdp	rs121912475
ensembl	rs121912475
geneview	rs121912475
scholar	rs121912475
google	rs121912475
pharmgkb	rs121912475
gwascentral	rs121912475
openSNP	rs121912475
23andMe	rs121912475
SNPshot	rs121912475
SNPdbe	rs121912475
MSV3d	rs121912475
GWAS Ctlg	rs121912475

Max Magnitude

0

OMIM	148040
Desc
Variant	0014
Related	also

ClinVar
Risk	rs121912475(A;A) rs121912475(T;T)
Alt	rs121912475(A;A) rs121912475(T;T)
Reference	Rs121912475(G;G)
Significance	Pathogenic
Disease	Epidermolysis bullosa simplex not provided
Variation	info
Gene	KRT5
CLNDBN	Epidermolysis bullosa simplex, Koebner type not provided
Reversed	1
HGVS	NC_000012.11:g.52912944C>A; NC_000012.11:g.52912944C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015758.25, RCV000056625.1, RCV000056624.1,